Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2023
Otorhinologic Disorders in 22q11.2 Deletion Syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Lu Nathan, Kacin Alexa J, Shaffer Amber D, Stapleton Amanda L
Аннотация
OBJECTIVE: Investigate incidence and natural history of otologic and sinonasal disease associated with 22q11.2 deletion syndrome.
STUDY DESIGN: Case series.
SETTING: Tertiary care children's hospital.
METHODS: Charts from consecutive children born 2000 to 2018 with a diagnosis of 22q11.2 deletion, DiGeorge, or velocardiofacial syndrome based on the International Classification of Diseases (ICD)-9 and ICD-10 codes were reviewed. Otologic and rhinologic diagnoses and surgeries and immune and microbiologic laboratory findings were collected from the medical record.
RESULTS: After the exclusion of patients with no 22q11.2 deletion (n = 101), otologic care at an outside hospital (n = 59), and loss to follow-up prior to 3 years of age (n = 22), 128 were included. Males comprised 80 (62.5%) patients, 115 (89.8%) were white, and the median age at genetic confirmation of 22q11.2 deletion was 119 days (range 0 days to 14.6 years). Recurrent acute otitis media (RAOM), chronic otitis media with effusion, chronic rhinosinusitis, and recurrent acute sinusitis were diagnosed in 54 (42.2%), 37 (28.9%), 10 (7.8%), and 8 (6.3%), respectively. Tympanostomy tubes were placed in 49 (38.3%). Adenoidectomy and sinus surgery were performed in 38 (29.7%) and 4 (3.1%), respectively. Neither immunoglobulin nor cluster of differentiation deficiency increased the odds of RAOM diagnosis, tympanostomy tube placement, or chronic/recurrent sinusitis. Methicillin-resistant Staphylococcus aureus was the most common organism in sinus cultures (4/13, 30.8%). Streptococcus pneumonia dominated otorrhea cultures (11/21, 52.4%).
CONCLUSION: Approximately half of children with 22q11.2 deletion may experience otologic disease that often requires surgical management. Future studies will utilize a larger cohort to examine the role of immunodeficiency in otologic and rhinologic disease in this population.
STUDY DESIGN: Case series.
SETTING: Tertiary care children's hospital.
METHODS: Charts from consecutive children born 2000 to 2018 with a diagnosis of 22q11.2 deletion, DiGeorge, or velocardiofacial syndrome based on the International Classification of Diseases (ICD)-9 and ICD-10 codes were reviewed. Otologic and rhinologic diagnoses and surgeries and immune and microbiologic laboratory findings were collected from the medical record.
RESULTS: After the exclusion of patients with no 22q11.2 deletion (n = 101), otologic care at an outside hospital (n = 59), and loss to follow-up prior to 3 years of age (n = 22), 128 were included. Males comprised 80 (62.5%) patients, 115 (89.8%) were white, and the median age at genetic confirmation of 22q11.2 deletion was 119 days (range 0 days to 14.6 years). Recurrent acute otitis media (RAOM), chronic otitis media with effusion, chronic rhinosinusitis, and recurrent acute sinusitis were diagnosed in 54 (42.2%), 37 (28.9%), 10 (7.8%), and 8 (6.3%), respectively. Tympanostomy tubes were placed in 49 (38.3%). Adenoidectomy and sinus surgery were performed in 38 (29.7%) and 4 (3.1%), respectively. Neither immunoglobulin nor cluster of differentiation deficiency increased the odds of RAOM diagnosis, tympanostomy tube placement, or chronic/recurrent sinusitis. Methicillin-resistant Staphylococcus aureus was the most common organism in sinus cultures (4/13, 30.8%). Streptococcus pneumonia dominated otorrhea cultures (11/21, 52.4%).
CONCLUSION: Approximately half of children with 22q11.2 deletion may experience otologic disease that often requires surgical management. Future studies will utilize a larger cohort to examine the role of immunodeficiency in otologic and rhinologic disease in this population.